SHORT REPORT

Application of haplotype pair analysis for the identification of hemizygous loci

B C Hendrickson¹, D Pruss¹, E Lyon², T Scholl¹

¹ Myriad Genetics Inc, Salt Lake City, UT 84108, USA
² Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA

Correspondence to:
Correspondence to:
Dr T Scholl, Clinical Research and Development, Myriad Genetic Laboratories Inc, 320 Wakara Way, Salt Lake City, Utah 84108, USA;
tscholl{at}myriad.com

An expectation maximisation based prediction algorithm was created to identify unusual haplotypes in patient samples that may be caused by small intragenic deletions. In this approach, unphased SNP genotypes are compared to pairs of canonical haplotypes to identify potentially hemizygous regions. This method was successfully applied to identify five deletions in the 3' region of BRCA1.

Keywords: BRCA1; gene rearrangement; haplotype; single nucleotide polymorphism

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